HIGM2
MCID: IMM104
MIFTS: 47

Immunodeficiency with Hyper-Igm, Type 2 (HIGM2)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency with Hyper-Igm, Type 2

MalaCards integrated aliases for Immunodeficiency with Hyper-Igm, Type 2:

Name: Immunodeficiency with Hyper-Igm, Type 2 57 13
Higm2 57 12 53 59 75 55
Immunodeficiency with Hyper Igm Type 2 53 29 6
Activation-Induced Cytidine Deaminase Deficiency 12 59
Immunodeficiency with Hyper-Igm Type 2 12 15
Hyper-Igm Syndrome Type 2 12 59
Hyper-Igm Syndrome 2 57 75
Aid Deficiency 12 59
Hyper-Igm Immunodeficiency Syndrome, Type 2 73
Immunodeficiency, with Hyper Igm, Type 2 40
Activation-Induced Cytidine Deaminase 13
Immunodeficiency with Hyper-Igm 2 75
Hyper-Igm Immunodeficiency Type 2 75
Hyper Igm Syndrome 2 53

Characteristics:

OMIM:

57
Miscellaneous:
recurrent bacterial infections
no opportunistic infections

Inheritance:
autosomal recessive


HPO:

32
immunodeficiency with hyper-igm, type 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 605258
Disease Ontology 12 DOID:0060758
ICD10 33 D80.5
Orphanet 59 ORPHA101089
UMLS via Orphanet 74 C1720956
ICD10 via Orphanet 34 D80.5
MedGen 42 C1720956
MeSH 44 D053306
UMLS 73 C1720956

Summaries for Immunodeficiency with Hyper-Igm, Type 2

OMIM : 57 Hyper-IgM syndrome type 2 (HIGM2) is a rare immunodeficiency characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections. For a discussion of genetic heterogeneity of immunodeficiency with hyper-IgM, see HIGM1 (308230). (605258)

MalaCards based summary : Immunodeficiency with Hyper-Igm, Type 2, also known as higm2, is related to b-cell lymphomas and leukemia, chronic lymphocytic. An important gene associated with Immunodeficiency with Hyper-Igm, Type 2 is AICDA (Activation Induced Cytidine Deaminase), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include lymph node, b cells and liver, and related phenotypes are immunodeficiency and lymphadenopathy

Disease Ontology : 12 A hyperimmunoglobulin syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has material basis in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 75 Immunodeficiency with hyper-IgM 2: A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections.

Related Diseases for Immunodeficiency with Hyper-Igm, Type 2

Diseases related to Immunodeficiency with Hyper-Igm, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 b-cell lymphomas 30.8 AICDA BCL6 CD40 TNFSF13B
2 leukemia, chronic lymphocytic 30.7 AICDA BCL6 CD40 CD40LG TNFSF13B
3 light fixation seizure syndrome 30.4 CD40 CD40LG
4 immunodeficiency with hyper-igm, type 1 30.3 AICDA CD40 CD40LG UNG
5 common variable immunodeficiency 30.1 AICDA CD40 CD40LG TNFSF13B
6 burkitt lymphoma 30.0 AICDA BCL6 CD40 CD40LG TNFSF13B
7 lymphoma 10.7
8 lymphocytic leukemia 10.6
9 leukemia 10.6
10 leukemia, chronic lymphocytic 2 10.5
11 leukemia, b-cell, chronic 10.5
12 leukemia, acute lymphoblastic 10.4
13 follicular lymphoma 10.4
14 oral squamous cell carcinoma 10.4
15 squamous cell carcinoma 10.4
16 gastric cancer 10.3
17 diffuse large b-cell lymphoma 10.3
18 hepatitis 10.3
19 hepatitis b 10.3
20 colitis 10.3
21 lymphoma, mucosa-associated lymphoid type 10.2
22 rheumatoid arthritis 10.2
23 lymphoma, hodgkin, classic 10.2
24 asthma 10.2
25 arthritis 10.2
26 viral infectious disease 10.2
27 congenital rubella 10.2 CD40LG UNG
28 immunodeficiency with hyper-igm, type 3 10.2 AICDA CD40 CD40LG
29 transient hypogammaglobulinemia of infancy 10.1 CD40 CD40LG UNG
30 b cell deficiency 10.1 AICDA CD40 CD40LG
31 sjogren-larsson syndrome 10.1
32 sulfamethoxazole allergy 10.1 CD40 CD40LG
33 acrodermatitis chronica atrophicans 10.1 CD40LG CXCL10
34 cd40 ligand deficiency 10.1 AICDA CD40 CD40LG UNG
35 spondyloarthropathy 1 10.1
36 breast cancer 10.1
37 sjogren syndrome 10.1
38 aging 10.1
39 cholangiocarcinoma 10.1
40 autoimmune lymphoproliferative syndrome, type v 10.1
41 acute lymphocytic leukemia 10.1
42 liver disease 10.1
43 mantle cell lymphoma 10.1
44 splenic marginal zone lymphoma 10.1
45 ulcerative colitis 10.1
46 lymphoproliferative syndrome 10.1
47 primary mediastinal b-cell lymphoma 10.1
48 graves' disease 10.1
49 lymphadenitis 10.1
50 hairy cell leukemia 10.1

Graphical network of the top 20 diseases related to Immunodeficiency with Hyper-Igm, Type 2:



Diseases related to Immunodeficiency with Hyper-Igm, Type 2

Symptoms & Phenotypes for Immunodeficiency with Hyper-Igm, Type 2

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent upper and lower respiratory tract infections

Immunology:
low-absent igg, iga
normal-elevated igm
impaired ig class switch recombination (csr)
lymph node hyperplasia
giant germinal centers in lymph nodes
more
Abdomen Gastrointestinal:
recurrent gastrointestinal infections


Clinical features from OMIM:

605258

Human phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 lymphadenopathy 32 HP:0002716
3 recurrent bacterial infections 32 HP:0002718
4 iga deficiency 32 HP:0002720
5 igg deficiency 32 HP:0004315
6 recurrent infection of the gastrointestinal tract 32 HP:0004798
7 recurrent upper and lower respiratory tract infections 32 HP:0200117
8 impaired ig class switch recombination 32 HP:0002959

MGI Mouse Phenotypes related to Immunodeficiency with Hyper-Igm, Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 AICDA BCL6 CD276 CD40 CD40LG CXCL10
2 immune system MP:0005387 9.4 AICDA BCL6 CD276 CD40 CD40LG CXCL10

Drugs & Therapeutics for Immunodeficiency with Hyper-Igm, Type 2

Search Clinical Trials , NIH Clinical Center for Immunodeficiency with Hyper-Igm, Type 2

Genetic Tests for Immunodeficiency with Hyper-Igm, Type 2

Genetic tests related to Immunodeficiency with Hyper-Igm, Type 2:

# Genetic test Affiliating Genes
1 Immunodeficiency with Hyper Igm Type 2 29 AICDA

Anatomical Context for Immunodeficiency with Hyper-Igm, Type 2

MalaCards organs/tissues related to Immunodeficiency with Hyper-Igm, Type 2:

41
Lymph Node, B Cells, Liver, Endothelial

Publications for Immunodeficiency with Hyper-Igm, Type 2

Articles related to Immunodeficiency with Hyper-Igm, Type 2:

# Title Authors Year
1
Coexistence of Two Rare Autosomal Recessive Disorders: Activation-Induced Cytidine Deaminase Deficiency and Sjogren-Larsson Syndrome. ( 28471629 )
2016
2
Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency. ( 14962793 )
2004
3
The block in immunoglobulin class switch recombination caused by activation-induced cytidine deaminase deficiency occurs prior to the generation of DNA double strand breaks in switch mu region. ( 12928399 )
2003

Variations for Immunodeficiency with Hyper-Igm, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

75
# Symbol AA change Variation ID SNP ID
1 AICDA p.Arg24Trp VAR_013774 rs104894324
2 AICDA p.Trp80Arg VAR_013775 rs104894320
3 AICDA p.Leu106Pro VAR_013776 rs104894321
4 AICDA p.Met139Val VAR_013777 rs104894322
5 AICDA p.Phe151Ser VAR_013778 rs104894327
6 AICDA p.Phe15Leu VAR_077563
7 AICDA p.Tyr31His VAR_077564
8 AICDA p.His130Pro VAR_077567

ClinVar genetic disease variations for Immunodeficiency with Hyper-Igm, Type 2:

6 (show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 AICDA NM_020661.3(AICDA): c.70C> T (p.Arg24Trp) single nucleotide variant Pathogenic rs104894324 GRCh37 Chromosome 12, 8759547: 8759547
2 AICDA NM_020661.3(AICDA): c.70C> T (p.Arg24Trp) single nucleotide variant Pathogenic rs104894324 GRCh38 Chromosome 12, 8606951: 8606951
3 AICDA NM_020661.3(AICDA): c.203G> A (p.Trp68Ter) single nucleotide variant Pathogenic rs104894325 GRCh37 Chromosome 12, 8758035: 8758035
4 AICDA NM_020661.3(AICDA): c.203G> A (p.Trp68Ter) single nucleotide variant Pathogenic rs104894325 GRCh38 Chromosome 12, 8605439: 8605439
5 AICDA NM_020661.3(AICDA): c.238T> C (p.Trp80Arg) single nucleotide variant Pathogenic rs104894320 GRCh37 Chromosome 12, 8758000: 8758000
6 AICDA NM_020661.3(AICDA): c.238T> C (p.Trp80Arg) single nucleotide variant Pathogenic rs104894320 GRCh38 Chromosome 12, 8605404: 8605404
7 AICDA NM_020661.3(AICDA): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs104894321 GRCh37 Chromosome 12, 8757921: 8757921
8 AICDA NM_020661.3(AICDA): c.317T> C (p.Leu106Pro) single nucleotide variant Pathogenic rs104894321 GRCh38 Chromosome 12, 8605325: 8605325
9 AICDA NM_020661.3(AICDA): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs104894322 GRCh37 Chromosome 12, 8757823: 8757823
10 AICDA NM_020661.3(AICDA): c.415A> G (p.Met139Val) single nucleotide variant Pathogenic rs104894322 GRCh38 Chromosome 12, 8605227: 8605227
11 AICDA NM_020661.3(AICDA): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs104894323 GRCh37 Chromosome 12, 8757505: 8757505
12 AICDA NM_020661.3(AICDA): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs104894323 GRCh38 Chromosome 12, 8604909: 8604909
13 AICDA NM_020661.3(AICDA): c.452T> C (p.Phe151Ser) single nucleotide variant Pathogenic rs104894327 GRCh37 Chromosome 12, 8757494: 8757494
14 AICDA NM_020661.3(AICDA): c.452T> C (p.Phe151Ser) single nucleotide variant Pathogenic rs104894327 GRCh38 Chromosome 12, 8604898: 8604898
15 AICDA NM_020661.3(AICDA): c.21_39del19 (p.Arg8Asnfs) deletion Pathogenic rs387906328 GRCh37 Chromosome 12, 8759578: 8759596
16 AICDA NM_020661.3(AICDA): c.21_39del19 (p.Arg8Asnfs) deletion Pathogenic rs387906328 GRCh38 Chromosome 12, 8606982: 8607000
17 AICDA NM_020661.3(AICDA): c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe) deletion Pathogenic rs387906329 GRCh37 Chromosome 12, 8758054: 8758062
18 AICDA NM_020661.3(AICDA): c.176_184delTGCTCTTCC (p.Leu59_Leu62delinsPhe) deletion Pathogenic rs387906329 GRCh38 Chromosome 12, 8605458: 8605466
19 AICDA NM_020661.3(AICDA): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922703 GRCh37 Chromosome 12, 8757987: 8757987
20 AICDA NM_020661.3(AICDA): c.251G> A (p.Trp84Ter) single nucleotide variant Pathogenic/Likely pathogenic rs193922703 GRCh38 Chromosome 12, 8605391: 8605391
21 AICDA NM_020661.3(AICDA): c.374G> A (p.Gly125Glu) single nucleotide variant Likely pathogenic rs193922704 GRCh37 Chromosome 12, 8757864: 8757864
22 AICDA NM_020661.3(AICDA): c.374G> A (p.Gly125Glu) single nucleotide variant Likely pathogenic rs193922704 GRCh38 Chromosome 12, 8605268: 8605268
23 AICDA NM_020661.3(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 NCBI36 Chromosome 12, 8649295: 8649295
24 AICDA NM_020661.3(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 GRCh37 Chromosome 12, 8758028: 8758028
25 AICDA NM_020661.3(AICDA): c.210A> G (p.Leu70=) single nucleotide variant Benign/Likely benign rs104894984 GRCh38 Chromosome 12, 8605432: 8605432
26 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh37 Chromosome 12, 8757481: 8757481
27 AICDA NM_020661.3(AICDA): c.465C> T (p.His155=) single nucleotide variant Benign rs2028373 GRCh38 Chromosome 12, 8604885: 8604885
28 AICDA NM_020661.3(AICDA): c.156+16G> A single nucleotide variant Benign rs2518144 GRCh37 Chromosome 12, 8759445: 8759445
29 AICDA NM_020661.3(AICDA): c.156+16G> A single nucleotide variant Benign rs2518144 GRCh38 Chromosome 12, 8606849: 8606849
30 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh37 Chromosome 12, 8759569: 8759569
31 AICDA NM_020661.3(AICDA): c.48A> G (p.Lys16=) single nucleotide variant Conflicting interpretations of pathogenicity rs186739900 GRCh38 Chromosome 12, 8606973: 8606973
32 AICDA NM_020661.3(AICDA): c.427+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201180477 GRCh38 Chromosome 12, 8605211: 8605211
33 AICDA NM_020661.3(AICDA): c.427+4C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201180477 GRCh37 Chromosome 12, 8757807: 8757807
34 AICDA NM_020661.3(AICDA): c.267C> T (p.Asp89=) single nucleotide variant Benign rs74334270 GRCh37 Chromosome 12, 8757971: 8757971
35 AICDA NM_020661.3(AICDA): c.267C> T (p.Asp89=) single nucleotide variant Benign rs74334270 GRCh38 Chromosome 12, 8605375: 8605375
36 AICDA NM_020661.3(AICDA): c.379C> A (p.Arg127=) single nucleotide variant Likely benign rs141451637 GRCh38 Chromosome 12, 8605263: 8605263
37 AICDA NM_020661.3(AICDA): c.379C> A (p.Arg127=) single nucleotide variant Likely benign rs141451637 GRCh37 Chromosome 12, 8757859: 8757859
38 AICDA NM_020661.3(AICDA): c.284C> T (p.Ala95Val) single nucleotide variant Uncertain significance rs780274954 GRCh38 Chromosome 12, 8605358: 8605358
39 AICDA NM_020661.3(AICDA): c.284C> T (p.Ala95Val) single nucleotide variant Uncertain significance rs780274954 GRCh37 Chromosome 12, 8757954: 8757954
40 AICDA NM_020661.3(AICDA): c.585T> C (p.Thr195=) single nucleotide variant Benign rs78590060 GRCh37 Chromosome 12, 8756892: 8756892
41 AICDA NM_020661.3(AICDA): c.585T> C (p.Thr195=) single nucleotide variant Benign rs78590060 GRCh38 Chromosome 12, 8604296: 8604296
42 AICDA NM_020661.3(AICDA): c.322A> C (p.Ile108Leu) single nucleotide variant Uncertain significance rs368645130 GRCh37 Chromosome 12, 8757916: 8757916
43 AICDA NM_020661.3(AICDA): c.322A> C (p.Ile108Leu) single nucleotide variant Uncertain significance rs368645130 GRCh38 Chromosome 12, 8605320: 8605320
44 AICDA NM_020661.3(AICDA): c.74G> A (p.Arg25His) single nucleotide variant Benign rs61730095 GRCh38 Chromosome 12, 8606947: 8606947
45 AICDA NM_020661.3(AICDA): c.74G> A (p.Arg25His) single nucleotide variant Benign rs61730095 GRCh37 Chromosome 12, 8759543: 8759543
46 AICDA NM_020661.3(AICDA): c.557T> C (p.Val186Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8756920: 8756920
47 AICDA NM_020661.3(AICDA): c.557T> C (p.Val186Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8604324: 8604324
48 AICDA NM_020661.3(AICDA): c.305C> T (p.Pro102Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8605337: 8605337
49 AICDA NM_020661.3(AICDA): c.305C> T (p.Pro102Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8757933: 8757933
50 AICDA NM_020661.3(AICDA): c.160G> C (p.Gly54Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8605482: 8605482

Expression for Immunodeficiency with Hyper-Igm, Type 2

Search GEO for disease gene expression data for Immunodeficiency with Hyper-Igm, Type 2.

Pathways for Immunodeficiency with Hyper-Igm, Type 2

Pathways related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 CD2 CD40 CD40LG CXCL10 CXCL9 IKBKG
2
Show member pathways
13.17 BCL6 CD40 CD40LG CXCL10 IKBKG TNFSF13B
3
Show member pathways
13.07 CD2 CD40 CD40LG CXCL10 CXCL9 IKBKG
4
Show member pathways
12.82 CD40 CXCL10 CXCL9 IKBKG TP53BP1
5
Show member pathways
12.61 AICDA CD40 CD40LG CXCL9 ICOSLG IKBKG
6
Show member pathways
12.51 CD40 CD40LG IKBKG TNFSF13B
7
Show member pathways
12.43 CD40 CD40LG IKBKG TNFSF13B
8
Show member pathways
12.43 CD40 CD40LG ICOSLG IKBKG
9
Show member pathways
12.21 CD40 CD40LG ICOSLG IKBKG
10 11.81 CD2 CD276 CD40 CD40LG ICOSLG
11 11.74 AICDA BCL6 CD2 CD276 CD40LG CXCL10
12 11.71 CD40 CD40LG IKBKG TNFSF13B
13
Show member pathways
11.57 CD40 CD40LG IKBKG TNFSF13B
14 11.54 CD40 CXCL10 CXCL9
15 11.47 AICDA BCL6 CD40LG
16 11.38 BCL6 CD40 CD40LG
17 11.32 CD2 CD276 CD40 CD40LG ICOSLG
18 11 CD2 CD40LG CXCL10 CXCL9 TNFSF13B
19 10.92 AICDA CD40 CD40LG IKBKG UNG
20 10.86 CD2 CD40LG CXCL10 CXCL9 TNFSF13B
21 10.5 CD40 IKBKG

GO Terms for Immunodeficiency with Hyper-Igm, Type 2

Cellular components related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.23 CD2 CD276 CD40 CD40LG CXCL10 CXCL9
2 replication fork GO:0005657 8.96 BCL6 TP53BP1

Biological processes related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.82 CD40 CD40LG IKBKG
2 defense response GO:0006952 9.81 CXCL10 CXCL9 ICOSLG
3 regulation of cell proliferation GO:0042127 9.8 APOBEC1 BCL6 CXCL10 CXCL9
4 response to bacterium GO:0009617 9.77 CD40 CXCL10 CXCL9
5 cellular response to lipopolysaccharide GO:0071222 9.76 AICDA CD40 CXCL10 CXCL9
6 B cell differentiation GO:0030183 9.73 AICDA BCL6 CD40LG
7 immune response GO:0006955 9.73 CD276 CD40LG CXCL10 CXCL9 IKBKG TNFSF13B
8 tumor necrosis factor-mediated signaling pathway GO:0033209 9.72 CD40 CD40LG TNFSF13B
9 positive regulation of T cell proliferation GO:0042102 9.71 CD276 CD40LG TNFSF13B
10 T cell costimulation GO:0031295 9.7 CD40LG ICOSLG TNFSF13B
11 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.65 CXCL10 CXCL9
12 positive regulation of interleukin-12 production GO:0032735 9.65 CD40 CD40LG
13 T cell activation GO:0042110 9.65 CD2 CD276 ICOSLG
14 leukocyte chemotaxis GO:0030595 9.64 CXCL10 CXCL9
15 positive regulation of endothelial cell apoptotic process GO:2000353 9.63 CD40 CD40LG
16 positive regulation of cAMP-mediated signaling GO:0043950 9.62 CXCL10 CXCL9
17 DNA demethylation GO:0080111 9.62 AICDA APOBEC1
18 T cell receptor signaling pathway GO:0050852 9.62 CD276 ICOSLG IKBKG MOG
19 somatic hypermutation of immunoglobulin genes GO:0016446 9.61 AICDA UNG
20 isotype switching GO:0045190 9.61 AICDA CD40LG
21 cytidine deamination GO:0009972 9.59 AICDA APOBEC1
22 cytidine to uridine editing GO:0016554 9.58 AICDA APOBEC1
23 positive regulation of isotype switching GO:0045830 9.58 TP53BP1 UNG
24 positive regulation of B cell proliferation GO:0030890 9.58 BCL6 CD40 TNFSF13B
25 DNA cytosine deamination GO:0070383 9.57 AICDA APOBEC1
26 defense response to virus GO:0051607 9.55 AICDA APOBEC1 CD40 CXCL10 CXCL9
27 regulation of immunoglobulin secretion GO:0051023 9.51 CD40 CD40LG
28 immunoglobulin secretion GO:0048305 9.43 CD40LG TNFSF13B
29 inflammatory response GO:0006954 9.43 BCL6 CD40 CD40LG CXCL10 CXCL9 IKBKG
30 negative regulation of methylation-dependent chromatin silencing GO:0090310 9.37 AICDA APOBEC1
31 regulation of immune response GO:0050776 9.17 BCL6 CD276 CD40 CD40LG ICOSLG MOG

Molecular functions related to Immunodeficiency with Hyper-Igm, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 CD40LG CXCL10 CXCL9 TNFSF13B
2 cytidine deaminase activity GO:0004126 9.32 AICDA APOBEC1
3 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines GO:0016814 9.26 AICDA APOBEC1
4 signaling receptor binding GO:0005102 9.1 CD2 CD276 CXCL10 ICOSLG MOG TNFSF13B
5 CXCR3 chemokine receptor binding GO:0048248 8.96 CXCL10 CXCL9

Sources for Immunodeficiency with Hyper-Igm, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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44 MeSH
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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